I55S (p.Ile55Ser) variant of NCF4 (Neutrophil cytosol factor 4)
I55S (p.Ile55Ser) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I55S (p.Ile55Ser) variant details
- p.Ile55Ser
- TOPMed rs932330052
- gnomAD rs932330052
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.56
- MetaLR 0.30
- MetaSVM -0.32
- CADD 29.90
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available